Canonical Allele Identifier: CA891842306

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078332_51078337del , CM000680.2:g.51078332_51078337del	GRCh38
NC_000018.9:g.48604702_48604707del , CM000680.1:g.48604702_48604707del	GRCh37
NC_000018.8:g.46858700_46858705del	NCBI36
NG_013013.2:g.115293_115298del , LRG_318:g.115293_115298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1524_1529del	ENSP00000465878.2:p.Trp509_Gly510del
ENST00000589076.6:c.1524_1529del	ENSP00000466934.2:p.Trp509_Gly510del
ENST00000589941.2:c.1524_1529del	ENSP00000465874.2:p.Trp509_Gly510del
ENST00000590061.2:c.1524_1529del	ENSP00000464772.2:p.Trp509_Gly510del
ENST00000593223.2:c.*1521_*1526del	ENSP00000466118.2:n.*1521_*1526del
ENST00000611848.2:c.*176_*181del	ENSP00000478613.2:n.*176_*181del
ENST00000684953.1:n.3539_3544del
ENST00000685090.1:n.3454_3459del
ENST00000685232.1:n.1745_1750del
ENST00000688574.1:n.1632_1637del
ENST00000691124.1:n.4485_4490del
ENST00000342988.8:c.1524_1529del MANE Select	ENSP00000341551.3:p.Trp509_Gly510del
ENST00000342988.7:c.1524_1529del	ENSP00000341551.3:p.Trp509_Gly510del
ENST00000398417.6:c.1524_1529del	ENSP00000381452.1:p.Trp509_Gly510del
ENST00000586253.1:n.246_251del
ENST00000588745.5:c.1236_1241del	ENSP00000464901.1:p.Trp413_Gly414del
ENST00000591126.5:n.3525_3530del
ENST00000592186.5:c.1171_1176del	ENSP00000468611.1:n.1171_1176del
ENST00000611848.1:c.837_842del
NM_005359.5:c.1524_1529del , LRG_318t1:c.1524_1529del	NP_005350.1:p.Trp509_Gly510del
NM_005359.6:c.1524_1529del MANE Select	NP_005350.1:p.Trp509_Gly510del